MT-TI Gene Cardiomyopathy, fatal, MT-TI related NGS Genetic Test
Short Name: MT-TI Gene Cardiomyopathy Test
Also known as: MT-TI Related Cardiomyopathy Genetic Test, Mitochondrial tRNA-Isoleucine Gene Test
MT-TI Gene Cardiomyopathy, fatal, MT-TI related NGS Genetic Test test available at DNA Labs India for ₹20,000. Uses Next Generation Sequencing (NGS) on Blood or Extracted DNA or One drop Blood on FTA Card samples. Results in 3 to 4 Weeks from sample receipt. Free home collection in 300+ cities across India.
🩺 Medically Reviewed By
Dr SULOCHANA HEMCHANDRA HOLLA
Consultant Medical Geneticist · Reg: 8532
Last reviewed: September 7, 2026
Overview
The purpose of this test is to diagnose MT-TI gene cardiomyopathy by identifying pathogenic mutations in the MT-TI gene using NGS technology, facilitating early treatment and genetic counselling.
- Test Code
- 5238
- Price
- ₹20,000
- Sample Type
- Blood or Extracted DNA or One drop Blood on FTA Card
- Result Time
- 3 to 4 Weeks from sample receipt
- Fasting Required
- No
- Method
- Next Generation Sequencing (NGS)
Sample Collection
Provide detailed clinical history and undergo genetic counselling to draw a pedigree chart of affected family members.
Method: Venipuncture or FTA Card spot collection
Laboratory Analysis
Blood sample collected via venipuncture or one drop on FTA card by a trained phlebotomist.
Report Delivery
Sample is labeled, stored appropriately, and transported to the laboratory for analysis.
Timeline: 3 to 4 Weeks from sample receipt
Patient Instructions
About This Test
Who Should Get This Test
The purpose of this test is to diagnose MT-TI gene cardiomyopathy by identifying pathogenic mutations in the MT-TI gene using NGS technology, facilitating early treatment and genetic counselling.
How to Prepare
- Schedule genetic counselling session prior to test
- Ensure sample is collected in a sterile environment
- Use EDTA tube or FTA card as specified
- Label sample with patient details and test information
Doctor's Notes
Reviewed by Dr SULOCHANA HEMCHANDRA HOLLA — MBBS, MD (Medical Genetics) · Reg. No. 8532
"Early genetic testing for MT-TI mutations is crucial for diagnosing fatal cardiomyopathy, guiding treatment, and enabling family screening to prevent complications."
Last medically reviewed: September 7, 2026
Test Parameters & Specifications
Sample Stability
- Hemolyzed or clotted samples
- Insufficient sample volume
- Improper labeling or documentation
- Contaminated samples
Understanding Your Results
Positive
Pathogenic variant detected, confirming MT-TI gene cardiomyopathy. Clinical management and family screening advised.
Negative
No pathogenic variants detected. Symptoms may be due to other causes; further evaluation recommended.
Variant of Uncertain Significance (VUS)
Genetic variant identified but clinical significance unknown. Repeat testing or family studies may be needed.
Consult a cardiologist or genetic specialist if you experience symptoms like chest pain, shortness of breath, or have a family history of cardiomyopathy, especially after receiving test results.
Limitations
- ⚠May not detect all genetic variants, including deep intronic mutations
- ⚠Results require clinical correlation
- ⚠Variant of uncertain significance (VUS) may be reported
- ⚠Does not rule out other causes of cardiomyopathy
Risks & Considerations
- ●Minimal risk from blood draw, such as bruising or infection
- ●No significant risks associated with genetic testing itself
Interfering Factors
- ●Sample contamination
- ●Degraded DNA quality
- ●Hemolyzed blood samples
- ●Improper sample storage
Compare With Similar Tests
| Test | MT-TI Gene Cardiomyopathy, fatal, MT-TI related NGS Genetic Test | Echocardiogram | Cardiac MRI | ECG | Full Cardiac Panel NGS Test |
|---|---|---|---|---|---|
| Comparison | MT-TI Gene Cardiomyopathy, fatal, MT-TI related NGS Genetic Test | Imaging test for heart structure; complementary to genetic testing for functional assessment. | Detailed heart imaging; used alongside genetic tests for comprehensive diagnosis. | Measures electrical activity; helps detect arrhythmias but not genetic mutations. | Tests multiple genes for cardiomyopathy; broader scope than single MT-TI gene test. |
Frequently Asked Questions
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₹20,000Reference Laboratory Services
We serve as a reference laboratory for hospitals and clinics across India. Send samples from your facility with same-day pickup, priority processing, and results delivered through our online portal. Competitive institutional pricing available.
Your Data Privacy
Your medical data is protected under Indian law.
✓ Stored in India: All patient records are stored on servers located in India. No data is transferred outside the country.
✓ DPDP Act Compliant: Under the Digital Personal Data Protection Act 2023, you can request deletion of your records at any time by contacting support.
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